Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage disease. Clinical features include short stuature, hepaosplenomegaly, progressive skeletal deformities of the thorax and spine, granular inc...

Although universal newborn screening can reliably identify all infants with sickle cell hemoglobinopathies, the initial screening result must not be considered the definitive diagnosis. We describe 23 infants whose screening phenotype was FS or FC but whose true phenoty...

To determine the frequency and natural history of tumors of the optic nerves and chlasm in patients with neurofibromatosis type 1, we obtained computed tomographic scans of 65 children who had no known visual or ocular abnormalities before their initial evaluation. Opti...

The pharmacokinetics and clinical efficacy of ceftazidime, a cephalosporin with activity against Pseudomonas aeruginosa, were studied in children with cystic fibrosis. Ceftazidime had high in vitro activity against P. aeruginosa strains isolated from our patients, with ...

A two-year-old girl with thrombocytopenia—absent radii syndrome underwent transplantation of allogeneic bone marrow from her histocompatible sibling to correct her persistently low platelet count. Six years after transplantation, she has durable engraftment of allogenei...

We have created a totally synthetic, protein-free surfactant (Exosurf) composed of dipalmitoylphosphatidylcholine, hexadecanol, and tyloxapol. We studied the effects of endotracheal instillation of Exosurf on survival and pulmonary function of preterm lambs delivered at...